Canonical Allele Identifier: CA406489213

Gene: PRKD2

Linked Data

• gnomAD v4: 19-46704321-T-C
• MyVariant Identifiers: chr19:g.47207578T>C (hg19) ; chr19:g.46704321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704321T>C , CM000681.2:g.46704321T>C	GRCh38
NC_000019.9:g.47207578T>C , CM000681.1:g.47207578T>C	GRCh37
NC_000019.8:g.51899418T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.737A>G MANE Select	ENSP00000291281.3:p.Tyr246Cys
ENST00000291281.8:c.737A>G	ENSP00000291281.3:p.Tyr246Cys
ENST00000433867.5:c.737A>G	ENSP00000393978.1:p.Tyr246Cys
ENST00000595515.5:c.737A>G	ENSP00000470804.1:p.Tyr246Cys
ENST00000600194.5:c.266A>G	ENSP00000472744.1:p.Tyr89Cys
ENST00000601605.5:c.41-3209A>G	ENSP00000470442.1:n.41-3209A>G
ENST00000601806.5:c.266A>G	ENSP00000469106.1:p.Tyr89Cys
NM_001079880.1:c.737A>G	NP_001073349.1:p.Tyr246Cys
NM_001079881.1:c.737A>G	NP_001073350.1:p.Tyr246Cys
NM_001079882.1:c.266A>G	NP_001073351.1:p.Tyr89Cys
NM_016457.4:c.737A>G	NP_057541.2:p.Tyr246Cys
XM_005258716.2:c.266A>G	XP_005258773.2:p.Tyr89Cys
NM_001079880.2:c.737A>G	NP_001073349.1:p.Tyr246Cys
NM_001079881.2:c.737A>G	NP_001073350.1:p.Tyr246Cys
NM_001079882.2:c.266A>G	NP_001073351.1:p.Tyr89Cys
NM_016457.5:c.737A>G MANE Select	NP_057541.2:p.Tyr246Cys